| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | Recessive dystrophic epidermolysis bullosa +7 more | |
| | | Deletion (frameshift variant) | Recessive dystrophic epidermolysis bullosa | |
Click to view in NCBI Gene